Cardiovascular and cardiogenetic disease analysis
Genetic and genomic analysis can be considered when there is a relevant personal or family history. Discuss testing with a specialist, who can recommend the appropriate analysis for your circumstances.
The analysis may be considered for people who:
- have a family history of sudden death or cardiac arrest;
- have unexplained fainting or seizures;
- have arrhythmia, cardiomyopathy or heart failure at a young age;
- have an enlarged aorta or aortic aneurysm;
- have unexplained high cholesterol;
- have a congenital cardiac condition; or
- are referred by a specialist cardiologist.
Available cardiogenetics panels
- Aortopathies panel – 48 genes
- Arrhythmia panel – 42 genes
- Cardiomyopathies panel – 98 genes
- Congenital heart disease panel – 80 genes
- RASopathies panel – 30 genes
- Familial hypercholesterolaemia panel – 11 genes
- Pulmonary hypertension panel – 11 genes
- Expanded cardiogenetics panel – 292 genes
- Whole-exome sequencing (WES) analysis, where clinically appropriate
Testing and interpretation should be discussed with the referring clinician. Results are interpreted in the appropriate clinical context.